ClinVar Miner

Submissions for variant NM_001130009.3(GEN1):c.1918A>C (p.Thr640Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002586139 SCV002929476 uncertain significance not provided 2023-04-11 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1901096). This variant has not been reported in the literature in individuals affected with GEN1-related conditions. This variant is present in population databases (rs778396849, gnomAD 0.003%). This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 640 of the GEN1 protein (p.Thr640Pro).
Ambry Genetics RCV004064410 SCV003906558 uncertain significance not specified 2023-02-22 criteria provided, single submitter clinical testing The c.1918A>C (p.T640P) alteration is located in exon 14 (coding exon 13) of the GEN1 gene. This alteration results from a A to C substitution at nucleotide position 1918, causing the threonine (T) at amino acid position 640 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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